HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94415265C>G , CM000669.2:g.94415265C>G | GRCh38 |
NC_000007.13:g.94044577C>G , CM000669.1:g.94044577C>G | GRCh37 |
NC_000007.12:g.93882513C>G | NCBI36 |
NG_007405.1:g.25705C>G , LRG_2:g.25705C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1759C>G MANE Select | ENSP00000297268.6:p.Pro587Ala | |
ENST00000297268.10:c.1759C>G | ENSP00000297268.6:p.Pro587Ala | |
ENST00000473573.5:n.96C>G | ||
ENST00000488298.5:n.183C>G | ||
ENST00000620463.1:c.1753C>G | ENSP00000477719.1:p.Pro585Ala | |
NM_000089.3:c.1759C>G , LRG_2t1:c.1759C>G | NP_000080.2:p.Pro587Ala | |
NM_000089.4:c.1759C>G MANE Select | NP_000080.2:p.Pro587Ala |